Liver transplantation in glycogen storage disease type I. [PDF]
Orphanet J Rare Dis, 2014 Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex.
Boers SJ, Visser G, Smit PG, Fuchs SA.
europepmc +11 more sources
Impact of glycogen storage disease type I on adult daily life: a survey [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate
Sven F. Garbade +6 more
doaj +4 more sources
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
Alessandro Rossi +9 more
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Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2017 Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI).
Rachel D. Torok MD +5 more
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Liver transplantation for type I and type IV glycogen storage disease [PDF]
European Journal of Pediatrics, 1993 Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period. One patient had glycogen storage disease (GSD) type I (von Gierke disease) and seven patients had type IV GSD (Andersen disease). As previously reported [19], a 16.5-year-
Richard W. Selby +6 more
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Brain Damage in Glycogen Storage Disease Type I
Pediatric Neurology Briefs, 2004 The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
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Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition [PDF]
Vascular Specialist International, 2023 Von Gierke disease, also known as glycogen storage disease type I, co-existent with an abdominal aortic aneurysm (AAA), is an extremely rare combination of diseases that requires challenging therapeutic measures.
Apostolos G. Pitoulias +5 more
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LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
The Lancet, 1983 Abstract A 161/2-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet and lifestyle.
J. Jeffrey Malatack +7 more
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Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study [PDF]
Molecular Genetics and Metabolism Reports, 2019 Background: Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF) to ...
Ghada Hijazi +6 more
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Vascular dysfunction in glycogen storage disease type I. [PDF]
J Pediatr, 2009 To determine cardiovascular disease risk in a larger cohort of patients with glycogen storage disease (GSD) I through the use of noninvasive measures of arterial function and anatomy.Carotid intima media thickness (IMT), radial artery tonometry, and brachial artery reactivity were performed in 28 patients with GSD I (13F/15M, mean age 23 years) and 23 ...
Bernier AV +5 more
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